ClinVar Miner

Submissions for variant NM_198576.4(AGRN):c.1275C>G (p.Tyr425Ter)

dbSNP: rs1239736447
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000798959 SCV000938603 pathogenic Congenital myasthenic syndrome 8 2018-12-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in AGRN are known to be pathogenic (PMID: 24951643). This variant has not been reported in the literature in individuals with AGRN-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr425*) in the AGRN gene. It is expected to result in an absent or disrupted protein product.

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